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Table 1 Findings in 15 patients with ALG8 deficiency

From: ALG8-CDG: novel patients and review of the literature

  Skladal [11] Charlwood [14] Chantret [8] Schollen [15] Eklund [9] Vesela [16] Stölting [17] Sorte [18] Funke [19] Kouwenberg [20] Patients 1, 2, 5
Sex F M M F F M M F M F F M M M F
Prenatal Data
IUGR / / Yes / Yes No No No No No Yes No No No No
Oligohydramnios / / Yes / Yes No No Yes No No No No Yes Yes No
Hydrops fetalis / / ND / / / / Yes No No / No Yes Yes No
Neonatal data
Weeks of gestation / 36 w (CS) 35 w (CS) / / 35 w 37 w 29 w (CS) At term At term 39 w (CS) 35 w 34 w (CS) 35 w (CS) 37 w (CS)
Birth weight / 2,590 g 2,280 g / / 2,920 g 3,070 g 1,420 g 3,980 g 3,680 g 2,210 g 2,920 g 2,570 g 2,700 g 3,080 g
Clinical symptoms
Ascites/edemas /   Yes Yes Yes Yes Yes Yes No No Yes Yes Yes Yes Yes
Onset of first symptoms From birth   From birth 4 months From birth 8 weeks From birth From birth From birth From birth From birth From birth From birth From birth From birth
Dysmorphism Yes   Yes No Yes Yes Yes No Yes Yes Yes Yes Yes Yes Yes
Gastrointestinal symptoms /   Yes Yes No Yes Yes Yes No No Yes Yes No Yes Yes
Brain involvement Yes   Yes No / Yes Yes Yes Yes Yes Yes Yes / Yes Yes
Hypotonia /   Yes No Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
Skin involvement /   Yes No / Yes No No Yes Yes Yes Yes No No Yes
Eye symptoms Cataract   No Retinopathy / No Cataract Optic atrophy No No Nystagmus No Cataract Cataract Cataract
Laboratory data                
Thrombocytopenia /   Yes / Yes Yes Yes Yes / / Yes Yes / Yes Yes
Coagulopathy Yes   Yes Yes Yes ND Yes Yes / / Yes Yes / Yes No
Hyponatremia /   Yes / Yes Yes Yes / / / / Yes Yes Yes Yes
Increased transaminases Yes   Yes No / Yes Yes No / / Yes Yes / Yes No
Survival 30 months 4 years 3 months >3 years 3 days 3 months 16 months 2 months >6 years >7 years 8,5 months 3 months 15 min 34 days 39 days
ALG8 mutations / Homozygous Comp. het. Comp. het. Comp. het. Comp. het. Homozygous Comp. het. Comp. het. Comp. het. Comp. het. Comp. het. / Comp. het. Comp. het.
Mutation 1 (genomic)   c.139A>C c.139A>C c.413delC c.139A>C c.673+4A>G c.139A>C c.139A>C c.845C>T c.845C>T c.799T>C c.673+4A>G   c.139A>C c.139A>C
Mutation 1 (functional)   p.T47P p.T47P p.T138Kfs*19 p.T47P Splice mutation p.T47P p.T47P p.A282V p.A282V p.S267P Splice mutation   p.T47P p.T47P
Mutation 2 (genomic)   c.139A>C c.96-2A>G c.396insA c.96-2A>G c.824G>A c.139A>C c.1090C>T c.1436delC c.1436delC c.808T>C c.824G>A   c.1090C>T c.1219_1220delCT
Mutation 2 (functional)   p.T47P Splice mutation p.V133Sfs*3 Splice mutation p.G275D p.T47P p.R364* p.P479Lfs*6 p.P479Lfs*6 p.F270L p.G275D   p.A364* p.L407Dfs*23
  1. CS Cesarean section; ND not described or no information available; dysmorphism such as low-set ears, macroglossia, pes equinovarus, campto- and brachydactyly; gastrointestinal symptoms include diarrhea, vomiting, protein-losing enteropathy; CNS defects include structural brain abnormalities, mental or psychomotor retardation, seizures; hypotonia presenting as floppy infant; skin involvement is abnormal fat distribution, wrinkly skin, cutis laxa, inverted nipples; electrolyte disturbances refers to hyponatremia; exitus, death, when written as > years it means age at last follow-up, no further information on outcome, comp. het., compound heterozygous
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172